John Garcia

Hsd10 Mitochondrial Disease, also known as 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, is related to syndromic x-linked intellectual disability type 10 and 2-methylbutyryl-coa dehydrogenase deficiency, and has symptoms including muscle spasticity, seizures and agitation. An important gene associated with Hsd10 Mitochondrial ...

Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to atelosteogenesis and diastrophic dysplasia. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, lung and respiratory system-lung, and related phenotypes are short neck and ...

Klippel-Feil Syndrome, also known as cervical vertebral fusion, is related to klippel-feil syndrome 2, autosomal recessive and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Klippel-Feil Syndrome is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesodermal ...

Macrophagic Myofasciitis, also known as mmf, is related to mycophenolate mofetil embryopathy and myopathy. Affiliated tissues include skeletal muscle, brain and breast, and related phenotypes are fatigue and fever

Babesiosis, also known as infection by babesia, is related to tick infestation and ehrlichiosis, and has symptoms including mild fevers and anemia described as malaria-like symptoms. An important gene associated with Babesiosis is HSPA4 (Heat Shock Protein Family A (Hsp70) Member 4), and among its related pathways/superpathways are ...